Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Gene: POMGNT2

Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.

Created: 28 Nov 2019, 4:28 p.m. | Last Modified: 28 Nov 2019, 4:28 p.m.

Panel Version: 1.125

Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.

Created: 28 Nov 2019, 4:27 p.m. | Last Modified: 28 Nov 2019, 4:27 p.m.

Panel Version: 1.124

Green List (high evidence)

Known form to muscular dystrophy.according to new classification is LGMDR24

Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.

Panel Version: 1.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Limb-girdle muscular dystrophy

Publications

• 27066570

I don't know

Review and rating from Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.

Created: 30 Apr 2019, 11:45 a.m.

I don't know

Need more papers. PMID:27066570 - Novel variants in POMGNT2 associated with milder forms of LGMD. In 3 unrelated Japanese patients with MDDGC8, identified homozygous or compound heterozygous missense mutations at highly conserved residues in the putative glycosyltransferase domain. Segregation studies in the families were not performed.

Created: 30 Apr 2019, 11:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830

Publications

• 27066570

Green List (high evidence)

Given the clinical spectrum associated with this gene there is sufficient justification for including this gene in the LGMD panel

Created: 29 Mar 2019, 1:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
limb girdle muscular dystrophy

Publications

• PMID: 27066570

Comment on list classification: No evidence from the four sources or OMIM for association of this gene with Limb girdle muscular dystrophy. Two variants identified in three patients with patients with the milder limb-girdle muscular dystrophy (PMID: 27066570).
Emma Clement comments: Insufficient evidence at the moment, however, based on the behaviour of the other genes in this pathway you would expect this gene to produce CMD and LGMD phenotypes

Created: 14 Jun 2016, 11:03 a.m.

Comment on list classification: Only a handful of cases, all much more severe/syndromic.

Created: 29 May 2016, 7:39 p.m.